Canonical Allele Identifier: CA10576345

Gene: ERLIN1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100154922G>A , CM000672.2:g.100154922G>A	GRCh38
NC_000010.10:g.101914679G>A , CM000672.1:g.101914679G>A	GRCh37
NC_000010.9:g.101904669G>A	NCBI36
NG_052910.1:g.36136C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006459.4:c.763C>T MANE Select	NP_006450.2:p.Arg255Ter
ENST00000421367.7:c.763C>T MANE Select	ENSP00000410964.2:p.Arg255Ter
NM_001100626.1:c.763C>T	NP_001094096.1:p.Arg255Ter
NM_001100626.2:c.763C>T	NP_001094096.1:p.Arg255Ter
NM_001347856.1:c.511C>T	NP_001334785.1:p.Arg171Ter
NM_001347856.2:c.511C>T	NP_001334785.1:p.Arg171Ter
NM_001347857.1:c.763C>T	NP_001334786.1:p.Arg255Ter
NM_001347857.2:c.763C>T	NP_001334786.1:p.Arg255Ter
NM_001347858.1:c.283C>T	NP_001334787.1:p.Arg95Ter
NM_001347858.2:c.283C>T	NP_001334787.1:p.Arg95Ter
NM_001347859.1:c.763C>T	NP_001334788.1:p.Arg255Ter
NM_001347859.2:c.763C>T	NP_001334788.1:p.Arg255Ter
NM_001347860.1:c.763C>T	NP_001334789.1:p.Arg255Ter
NM_001347860.2:c.763C>T	NP_001334789.1:p.Arg255Ter
NM_001347861.1:c.763C>T	NP_001334790.1:p.Arg255Ter
NM_001347861.2:c.763C>T	NP_001334790.1:p.Arg255Ter
NM_006459.3:c.763C>T	NP_006450.2:p.Arg255Ter
NR_144755.1:n.860C>T
NR_144755.2:n.832C>T
NR_144756.1:n.811C>T
NR_144756.2:n.783C>T
NR_144757.1:n.833C>T
NR_144757.2:n.805C>T
NR_144758.1:n.942C>T
NR_144758.2:n.914C>T
NR_144759.1:n.920C>T
NR_144759.2:n.972C>T
NR_144760.1:n.894C>T
NR_144760.2:n.946C>T
ENST00000370408.2:c.763C>T	ENSP00000359436.2:p.Arg255Ter
ENST00000407654.7:c.763C>T	ENSP00000384900.3:p.Arg255Ter
ENST00000421367.6:c.763C>T	ENSP00000410964.2:p.Arg255Ter
XM_005269442.2:c.763C>T	XP_005269499.1:p.Arg255Ter
XM_011539170.1:c.511C>T	XP_011537472.1:p.Arg171Ter